ABHD3: Abhydrolase Domain Containing 3
A lipid hydrolase involved in phospholipid metabolism and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | ABHD3 |
|---|---|
| Full Name | Abhydrolase Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 171586 ncbi.nlm.nih.gov/gene/171586 |
| Ensembl ID | ENSG00000167978 |
| UniProt ID | Q8WU67 |
| OMIM ID | 612187 |
| HGNC ID | 18715 |
| Aliases | LABH3, MGC13170 |
Description
ABHD3 (Abhydrolase Domain Containing 3) encodes a member of the alpha/beta hydrolase superfamily. The protein exhibits phospholipase A1 and A2 activity, hydrolyzing phosphatidylcholine and phosphatidylethanolamine to produce lysophospholipids. It is involved in lipid metabolism and may play roles in cell signaling and membrane dynamics. ABHD3 is expressed in multiple tissues and has been implicated in cancer and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression may affect lipid signaling and tumor progression. | COSMIC; TCGA data |
| Neurological disorders (e.g., epilepsy) | Potential role in lipid metabolism in the brain; variants associated with seizure susceptibility. | ClinVar; literature |
| Metabolic syndrome | Dysregulation of phospholipid metabolism linked to obesity and insulin resistance. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HepG2 | 7.5 | Low expression |
| SH-SY5Y | 14.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Trp) | Missense | <0.01% | Unknown functional impact |
| c.782G>A (p.Arg261His) | Missense | <0.01% | Reported in ClinVar for epilepsy |
| c.1003_1004insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of hydrolase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004620 - phospholipase activity | • GO:0006629 - lipid metabolic process |
| • GO:0016787 - hydrolase activity | • GO:0005737 - cytoplasm |
| • GO:0016020 - membrane |
Pathways
• Phospholipid metabolism (Reactome: R-HSA-1483206)
• Glycerophospholipid biosynthesis (KEGG: map00564)
Protein Summary
ABHD3 is a 339-amino acid protein with an alpha/beta hydrolase fold. It localizes to the cytoplasm and membrane, where it catalyzes the hydrolysis of phospholipids. The protein contains a conserved catalytic triad (Ser-Asp-His) essential for its enzymatic activity. ABHD3 is widely expressed, with highest levels in brain and testis. Its function in lipid signaling suggests roles in cellular homeostasis and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD3 Knockout HEK293 Cell Line | EDJ-KQ12248 | Human | 171586 | Details Get a Quote |
| ABHD3 Knockout A-549 Cell Line | EDJ-KQ41021 | Human | 171586 | Details Get a Quote |
| ABHD3 Knockout HCT 116 Cell Line | EDJ-KQ41022 | Human | 171586 | Details Get a Quote |
| ABHD3 Knockout HeLa Cell Line | EDJ-KQ41023 | Human | 171586 | Details Get a Quote |
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